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Article

Molecular and clinical heterogeneity of adult GM2 gangliosidosis.

Developmental neuroscience - 1 Jan 1991

Navon R

Abstract excerpt

Adult GM2 gangliosidosis is a rare autosomal recessive disease with widely varying neurological and psychiatric manifestations. It is caused by marked deficiency, but not total absence, of beta-hexosaminidase (Hex) A, due to a single base change in the alpha-subunit gene of Hex, resulting in a su...

Topics

Adult
Aged
Base Sequence
DNA Mutational Analysis
DNA Probes
Female
G(M2) Ganglioside
Gangliosidoses
Gene Frequency
Genes
Genes, Recessive
Genotype
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hexosaminidase A

Humans

Jews

Molecular Sequence Data

Protein Precursors

Source

Identifiers

PMID: 1840100
DOI: 10.1159/000112200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1840100-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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